Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID‐19: The experience of a TSC clinic in Italy

Peron, Angela; La Briola, Francesca; Bruschi, Fabio; Terraneo, Silvia; Vannicola, Chiara; Previtali, Roberto; Perazzoli, Sabrina; Morenghi, Emanuela; Bulfamante, Gaetano; Vignoli, Aglaia; Canevini, Maria Paola

Individuals with comorbidities are at higher risk of coronavirus disease 2019 (COVID‐19) and worse outcome, but little information has been available about patients with genetic diseases and COVID‐19. This study aims at evaluating the presence and outcome of COVID‐19 in a cohort of Italian patients with tuberous sclerosis complex (TSC) and/or lymphangioleiomyomatosis (LAM), and at reviewing the possible effects of mTOR inhibitors on SARS‐CoV‐2 infection. We included 102 unselected individuals with a diagnosis of TSC and/or LAM assessed between January 1, 2020 and April 24, 2020 (29% children, 71% adults). Twenty‐six patients were on mTOR inhibitors. Demographic data, TSC manifestations, presence, and outcomes in individuals with confirmed or suspected SARS‐CoV‐2 infection were evaluated. Health status and outcomes of all patients on mTOR inhibitors were assessed. One patient with severe TSC had polymerase chain reaction (PCR)‐confirmed SARS‐CoV‐2 infection, was admitted to ICU, and died. Nine additional patients either met the definition of suspect case or presented with at least two of the most common symptoms of SARS‐CoV‐2 infection. All recovered fully. None of the patients treated with mTOR inhibitors for their underlying comorbidities was diagnosed with COVID‐19, and those who showed suspicious respiratory symptoms recovered fully. This cohort study provides preliminary information on COVID‐19 in people with TSC in Italy and suggests feasibility to systematically evaluate the role of mTOR inhibitors in SARS‐CoV‐2 infection.